Product Details

SNP ID

rs201480938

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24211554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCCGTCAGTTTGTGCCAGCTGCT[A/G]TTCGAATCTTTTCTTCCTCCGCAAA

Phenotype

MIM: 610051 MIM: 603171 MIM: 610711

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHMP4A PubMed Links

Gene Details

Gene

CHMP4A

Gene Name

charged multivesicular body protein 4A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014169.3	611	Nonsense Mutation	CAG,TAG	Q117*	NP_054888.2

Gene

MDP1

Gene Name

magnesium dependent phosphatase 1

There are no transcripts associated with this gene.

Gene

NEDD8

Gene Name

neural precursor cell expressed, developmentally down-regulated 8

There are no transcripts associated with this gene.

Gene

NEDD8-MDP1

Gene Name

NEDD8-MDP1 readthrough

There are no transcripts associated with this gene.

Gene

TSSK4

Gene Name

testis specific serine kinase 4

There are no transcripts associated with this gene.

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